NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)
|
rs377026877
|
0.00005
|
NM_005902.4(SMAD3):c.74G>T (p.Gly25Val)
|
rs191612061
|
0.00004
|
NM_005902.4(SMAD3):c.1120A>G (p.Met374Val)
|
rs370394986
|
0.00003
|
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys)
|
rs1206533102
|
0.00003
|
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)
|
rs371876622
|
0.00003
|
NM_005902.4(SMAD3):c.533-13_533-10del
|
rs752716057
|
0.00003
|
NM_005902.4(SMAD3):c.1145C>T (p.Ala382Val)
|
rs779602560
|
0.00002
|
NM_005902.4(SMAD3):c.400+5G>T
|
rs766829176
|
0.00002
|
NM_005902.4(SMAD3):c.1009+5A>C
|
rs772995932
|
0.00001
|
NM_005902.4(SMAD3):c.1009+6C>T
|
rs749052145
|
0.00001
|
NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp)
|
rs745387614
|
0.00001
|
NM_005902.4(SMAD3):c.179T>C (p.Val60Ala)
|
rs1242358787
|
0.00001
|
NM_005902.4(SMAD3):c.189G>C (p.Lys63Asn)
|
rs1555405116
|
0.00001
|
NM_005902.4(SMAD3):c.207-3C>A
|
rs757772685
|
0.00001
|
NM_005902.4(SMAD3):c.239G>A (p.Arg80Gln)
|
rs758823376
|
0.00001
|
NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln)
|
rs750982529
|
0.00001
|
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala)
|
rs863223767
|
0.00001
|
NM_005902.4(SMAD3):c.424C>T (p.Arg142Cys)
|
rs1253901433
|
0.00001
|
NM_005902.4(SMAD3):c.575G>C (p.Ser192Thr)
|
rs1264997614
|
0.00001
|
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr)
|
rs1962721856
|
0.00001
|
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe)
|
rs886038567
|
0.00001
|
NM_005902.4(SMAD3):c.784G>A (p.Asp262Asn)
|
rs1201995588
|
0.00001
|
NM_005902.4(SMAD3):c.797C>T (p.Ser266Leu)
|
rs753486471
|
0.00001
|
NM_005902.4(SMAD3):c.883C>T (p.Arg295Trp)
|
rs1399970718
|
0.00001
|
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr)
|
rs1348033858
|
0.00001
|
NM_005902.4(SMAD3):c.964C>A (p.Gln322Lys)
|
rs1963178887
|
0.00001
|
NM_005902.4(SMAD3):c.991G>A (p.Val331Ile)
|
rs1320208623
|
0.00001
|
NC_000015.10:g.(?_67184717)_(67190546_?)dup
|
|
|
NC_000015.9:g.(?_67358483)_(67358708_?)dup
|
|
|
NC_000015.9:g.(?_67358483)_(67482884_?)dup
|
|
|
NC_000015.9:g.(?_67358493)_(67358718_?)dup
|
|
|
NC_000015.9:g.(?_67473569)_(67482884_?)dup
|
|
|
NM_005902.4(SMAD3):c.1001T>A (p.Ile334Asn)
|
|
|
NM_005902.4(SMAD3):c.1006C>G (p.Pro336Ala)
|
|
|
NM_005902.4(SMAD3):c.1009G>C (p.Gly337Arg)
|
|
|
NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr)
|
rs2140188906
|
|
NM_005902.4(SMAD3):c.1019T>C (p.Leu340Pro)
|
rs2140323401
|
|
NM_005902.4(SMAD3):c.1029C>G (p.Phe343Leu)
|
rs2140323430
|
|
NM_005902.4(SMAD3):c.1033A>T (p.Asn345Tyr)
|
|
|
NM_005902.4(SMAD3):c.1044C>G (p.Phe348Leu)
|
|
|
NM_005902.4(SMAD3):c.1062G>T (p.Gln354His)
|
rs1567003470
|
|
NM_005902.4(SMAD3):c.1080T>G (p.Phe360Leu)
|
rs2140323584
|
|
NM_005902.4(SMAD3):c.1081G>A (p.Glu361Lys)
|
rs387906856
|
|
NM_005902.4(SMAD3):c.1087G>A (p.Val363Ile)
|
|
|
NM_005902.4(SMAD3):c.1088T>C (p.Val363Ala)
|
|
|
NM_005902.4(SMAD3):c.1088T>G (p.Val363Gly)
|
rs1595962693
|
|
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys)
|
rs886039177
|
|
NM_005902.4(SMAD3):c.109A>T (p.Ser37Cys)
|
|
|
NM_005902.4(SMAD3):c.1102C>G (p.Arg368Gly)
|
rs757106110
|
|
NM_005902.4(SMAD3):c.110G>T (p.Ser37Ile)
|
rs1555405107
|
|
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle)
|
rs863223769
|
|
NM_005902.4(SMAD3):c.110_121del (p.Ser37_Lys40del)
|
rs863223755
|
|
NM_005902.4(SMAD3):c.1112C>A (p.Thr371Asn)
|
rs1963251370
|
|
NM_005902.4(SMAD3):c.1117C>A (p.Arg373Ser)
|
rs863223746
|
|
NM_005902.4(SMAD3):c.1118G>T (p.Arg373Leu)
|
rs1060500766
|
|
NM_005902.4(SMAD3):c.1121T>A (p.Met374Lys)
|
rs1555414240
|
|
NM_005902.4(SMAD3):c.1124G>T (p.Ser375Ile)
|
|
|
NM_005902.4(SMAD3):c.1135G>A (p.Gly379Ser)
|
|
|
NM_005902.4(SMAD3):c.1137C>T (p.Gly379=)
|
|
|
NM_005902.4(SMAD3):c.1138T>G (p.Trp380Gly)
|
rs1963252441
|
|
NM_005902.4(SMAD3):c.1141G>A (p.Gly381Arg)
|
|
|
NM_005902.4(SMAD3):c.1142G>T (p.Gly381Val)
|
rs1963252519
|
|
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly)
|
rs886038836
|
|
NM_005902.4(SMAD3):c.1154+3C>T
|
|
|
NM_005902.4(SMAD3):c.1155-1G>A
|
rs1963331116
|
|
NM_005902.4(SMAD3):c.115G>C (p.Val39Leu)
|
rs2140188954
|
|
NM_005902.4(SMAD3):c.1175C>A (p.Thr392Asn)
|
rs1555414486
|
|
NM_005902.4(SMAD3):c.1178C>G (p.Pro393Arg)
|
|
|
NM_005902.4(SMAD3):c.1180T>G (p.Cys394Gly)
|
rs2140327744
|
|
NM_005902.4(SMAD3):c.1183T>A (p.Trp395Arg)
|
|
|
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn)
|
rs1595965957
|
|
NM_005902.4(SMAD3):c.1187T>C (p.Ile396Thr)
|
rs1595965957
|
|
NM_005902.4(SMAD3):c.1190A>G (p.Glu397Gly)
|
rs1060500765
|
|
NM_005902.4(SMAD3):c.1190A>T (p.Glu397Val)
|
rs1060500765
|
|
NM_005902.4(SMAD3):c.1195C>T (p.His399Tyr)
|
rs1233301604
|
|
NM_005902.4(SMAD3):c.1221T>G (p.Leu407=)
|
|
|
NM_005902.4(SMAD3):c.1222G>C (p.Asp408His)
|
rs201263330
|
|
NM_005902.4(SMAD3):c.1228G>T (p.Val410Phe)
|
rs863223748
|
|
NM_005902.4(SMAD3):c.1228_1229insATGGCCTTTGCAGTGCCA (p.Val410delinsAspGlyLeuCysSerAlaIle)
|
rs1963333453
|
|
NM_005902.4(SMAD3):c.1231C>T (p.Leu411Phe)
|
|
|
NM_005902.4(SMAD3):c.1252A>G (p.Ser418Gly)
|
|
|
NM_005902.4(SMAD3):c.1262G>A (p.Cys421Tyr)
|
|
|
NM_005902.4(SMAD3):c.1265C>A (p.Ser422Tyr)
|
rs1567005581
|
|
NM_005902.4(SMAD3):c.1265C>G (p.Ser422Cys)
|
|
|
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn)
|
rs1555414503
|
|
NM_005902.4(SMAD3):c.1269T>A (p.Ser423Arg)
|
rs1060500772
|
|
NM_005902.4(SMAD3):c.1278G>C (p.Ter426Tyr)
|
rs1555414506
|
|
NM_005902.4(SMAD3):c.145G>C (p.Asp49His)
|
|
|
NM_005902.4(SMAD3):c.148G>A (p.Glu50Lys)
|
rs863223751
|
|
NM_005902.4(SMAD3):c.152T>C (p.Leu51Pro)
|
|
|
NM_005902.4(SMAD3):c.152T>G (p.Leu51Arg)
|
rs1595882150
|
|
NM_005902.4(SMAD3):c.157A>G (p.Lys53Glu)
|
rs2140189069
|
|
NM_005902.4(SMAD3):c.160G>A (p.Ala54Thr)
|
rs2140189075
|
|
NM_005902.4(SMAD3):c.161C>G (p.Ala54Gly)
|
|
|
NM_005902.4(SMAD3):c.163A>T (p.Ile55Phe)
|
|
|
NM_005902.4(SMAD3):c.163_177del (p.Ile55_Asn59del)
|
rs1595882160
|
|
NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys)
|
rs1959915488
|
|
NM_005902.4(SMAD3):c.182A>C (p.Asn61Thr)
|
|
|
NM_005902.4(SMAD3):c.190T>C (p.Cys64Arg)
|
rs1060500768
|
|
NM_005902.4(SMAD3):c.193A>T (p.Ile65Phe)
|
|
|
NM_005902.4(SMAD3):c.194T>A (p.Ile65Asn)
|
|
|
NM_005902.4(SMAD3):c.194T>C (p.Ile65Thr)
|
rs1555405117
|
|
NM_005902.4(SMAD3):c.199A>G (p.Ile67Val)
|
|
|
NM_005902.4(SMAD3):c.203C>T (p.Pro68Leu)
|
|
|
NM_005902.4(SMAD3):c.205A>G (p.Arg69Gly)
|
rs1959916737
|
|
NM_005902.4(SMAD3):c.206+3G>T
|
rs1265081565
|
|
NM_005902.4(SMAD3):c.206+5G>A
|
rs1959917032
|
|
NM_005902.4(SMAD3):c.206G>A (p.Arg69Lys)
|
rs1959916789
|
|
NM_005902.4(SMAD3):c.207-6_207-5insA
|
|
|
NM_005902.4(SMAD3):c.212T>C (p.Leu71Pro)
|
rs1262859970
|
|
NM_005902.4(SMAD3):c.215A>G (p.Asp72Gly)
|
|
|
NM_005902.4(SMAD3):c.217G>A (p.Gly73Ser)
|
rs1595941556
|
|
NM_005902.4(SMAD3):c.229G>T (p.Val77Leu)
|
|
|
NM_005902.4(SMAD3):c.236A>G (p.His79Arg)
|
|
|
NM_005902.4(SMAD3):c.238C>T (p.Arg80Trp)
|
rs750707381
|
|
NM_005902.4(SMAD3):c.239G>C (p.Arg80Pro)
|
rs758823376
|
|
NM_005902.4(SMAD3):c.243G>T (p.Lys81Asn)
|
rs1555412065
|
|
NM_005902.4(SMAD3):c.270_271delinsAA (p.Leu91Met)
|
rs1962535802
|
|
NM_005902.4(SMAD3):c.272T>C (p.Leu91Pro)
|
|
|
NM_005902.4(SMAD3):c.290T>C (p.Leu97Pro)
|
rs1595941698
|
|
NM_005902.4(SMAD3):c.292C>T (p.His98Tyr)
|
rs1962536933
|
|
NM_005902.4(SMAD3):c.298CAC[1] (p.His101del)
|
|
|
NM_005902.4(SMAD3):c.303C>G (p.His101Gln)
|
|
|
NM_005902.4(SMAD3):c.306_308dup (p.Leu103dup)
|
rs1962537774
|
|
NM_005902.4(SMAD3):c.308_309delinsCG (p.Leu103Pro)
|
rs2140294002
|
|
NM_005902.4(SMAD3):c.309_310inv (p.Arg104Trp)
|
|
|
NM_005902.4(SMAD3):c.313G>C (p.Ala105Pro)
|
|
|
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr)
|
rs1301737199
|
|
NM_005902.4(SMAD3):c.320A>G (p.Glu107Gly)
|
|
|
NM_005902.4(SMAD3):c.323T>G (p.Leu108Arg)
|
rs1962538901
|
|
NM_005902.4(SMAD3):c.325T>A (p.Cys109Ser)
|
rs1555412079
|
|
NM_005902.4(SMAD3):c.326G>A (p.Cys109Tyr)
|
rs878854814
|
|
NM_005902.4(SMAD3):c.331T>C (p.Phe111Leu)
|
rs1595941801
|
|
NM_005902.4(SMAD3):c.343A>G (p.Met115Val)
|
|
|
NM_005902.4(SMAD3):c.345G>A (p.Met115Ile)
|
rs1595941837
|
|
NM_005902.4(SMAD3):c.358G>T (p.Val120Phe)
|
|
|
NM_005902.4(SMAD3):c.359T>G (p.Val120Gly)
|
rs1962540440
|
|
NM_005902.4(SMAD3):c.364G>T (p.Val122Leu)
|
|
|
NM_005902.4(SMAD3):c.376C>A (p.His126Asn)
|
|
|
NM_005902.4(SMAD3):c.377A>G (p.His126Arg)
|
rs863223766
|
|
NM_005902.4(SMAD3):c.379T>A (p.Tyr127Asn)
|
rs1962541191
|
|
NM_005902.4(SMAD3):c.401-7C>A
|
rs774268232
|
|
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu)
|
rs751860407
|
|
NM_005902.4(SMAD3):c.449T>A (p.Phe150Tyr)
|
|
|
NM_005902.4(SMAD3):c.451C>T (p.Pro151Ser)
|
|
|
NM_005902.4(SMAD3):c.454C>G (p.Pro152Ala)
|
|
|
NM_005902.4(SMAD3):c.463G>A (p.Asp155Asn)
|
|
|
NM_005902.4(SMAD3):c.467A>G (p.Tyr156Cys)
|
rs1397686956
|
|
NM_005902.4(SMAD3):c.481C>A (p.Pro161Thr)
|
|
|
NM_005902.4(SMAD3):c.481C>T (p.Pro161Ser)
|
|
|
NM_005902.4(SMAD3):c.490A>G (p.Thr164Ala)
|
|
|
NM_005902.4(SMAD3):c.529C>T (p.Pro177Ser)
|
|
|
NM_005902.4(SMAD3):c.532+3A>G
|
|
|
NM_005902.4(SMAD3):c.544C>T (p.Pro182Ser)
|
|
|
NM_005902.4(SMAD3):c.575G>A (p.Ser192Asn)
|
|
|
NM_005902.4(SMAD3):c.596G>T (p.Ser199Ile)
|
rs2140296884
|
|
NM_005902.4(SMAD3):c.598A>G (p.Met200Val)
|
|
|
NM_005902.4(SMAD3):c.601G>T (p.Asp201Tyr)
|
rs1182834384
|
|
NM_005902.4(SMAD3):c.602A>G (p.Asp201Gly)
|
rs1416321033
|
|
NM_005902.4(SMAD3):c.603C>G (p.Asp201Glu)
|
|
|
NM_005902.4(SMAD3):c.631C>G (p.Pro211Ala)
|
|
|
NM_005902.4(SMAD3):c.635T>C (p.Met212Thr)
|
|
|
NM_005902.4(SMAD3):c.644C>G (p.Ala215Gly)
|
rs376353913
|
|
NM_005902.4(SMAD3):c.658G>A (p.Asp220Asn)
|
rs2140301204
|
|
NM_005902.4(SMAD3):c.658G>C (p.Asp220His)
|
|
|
NM_005902.4(SMAD3):c.682G>A (p.Glu228Lys)
|
rs863223735
|
|
NM_005902.4(SMAD3):c.686C>T (p.Pro229Leu)
|
rs1232187684
|
|
NM_005902.4(SMAD3):c.699C>G (p.Cys233Trp)
|
rs2140313911
|
|
NM_005902.4(SMAD3):c.707C>T (p.Ser236Phe)
|
rs1963046088
|
|
NM_005902.4(SMAD3):c.709TAC[1] (p.Tyr238del)
|
rs863223752
|
|
NM_005902.4(SMAD3):c.719T>A (p.Leu240Gln)
|
|
|
NM_005902.4(SMAD3):c.721A>C (p.Asn241His)
|
|
|
NM_005902.4(SMAD3):c.728G>A (p.Arg243His)
|
rs863223736
|
|
NM_005902.4(SMAD3):c.72C>G (p.Asn24Lys)
|
rs780995229
|
|
NM_005902.4(SMAD3):c.730G>T (p.Val244Phe)
|
rs773543026
|
|
NM_005902.4(SMAD3):c.734G>A (p.Gly245Glu)
|
rs1963047822
|
|
NM_005902.4(SMAD3):c.742T>G (p.Phe248Val)
|
|
|
NM_005902.4(SMAD3):c.769G>A (p.Val257Met)
|
rs1963049659
|
|
NM_005902.4(SMAD3):c.773A>G (p.Asp258Gly)
|
rs1566999483
|
|
NM_005902.4(SMAD3):c.776G>A (p.Gly259Asp)
|
rs1963050062
|
|
NM_005902.4(SMAD3):c.781A>G (p.Thr261Ala)
|
rs1060500764
|
|
NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser)
|
rs863223739
|
|
NM_005902.4(SMAD3):c.790_792dup (p.Ser264dup)
|
rs2140314233
|
|
NM_005902.4(SMAD3):c.79GAG[1] (p.Glu28del)
|
|
|
NM_005902.4(SMAD3):c.805T>C (p.Phe269Leu)
|
rs1595956712
|
|
NM_005902.4(SMAD3):c.827A>G (p.Asn276Ser)
|
|
|
NM_005902.4(SMAD3):c.835A>G (p.Arg279Gly)
|
rs1595956756
|
|
NM_005902.4(SMAD3):c.838A>T (p.Asn280Tyr)
|
rs2140314384
|
|
NM_005902.4(SMAD3):c.842C>T (p.Ala281Val)
|
rs1963053530
|
|
NM_005902.4(SMAD3):c.854T>C (p.Leu285Pro)
|
|
|
NM_005902.4(SMAD3):c.864_866dup (p.Arg288_His289insGln)
|
|
|
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg)
|
rs730880215
|
|
NM_005902.4(SMAD3):c.871G>C (p.Gly291Arg)
|
|
|
NM_005902.4(SMAD3):c.872-6_872-5del
|
rs1963174213
|
|
NM_005902.4(SMAD3):c.884G>A (p.Arg295Gln)
|
rs772730200
|
|
NM_005902.4(SMAD3):c.884G>T (p.Arg295Leu)
|
rs772730200
|
|
NM_005902.4(SMAD3):c.887T>C (p.Leu296Pro)
|
rs2140319849
|
|
NM_005902.4(SMAD3):c.907G>A (p.Val303Ile)
|
rs1060500767
|
|
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp)
|
rs1555414011
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NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe)
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rs764656928
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NM_005902.4(SMAD3):c.925A>G (p.Ser309Gly)
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rs754409301
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NM_005902.4(SMAD3):c.931A>G (p.Ser311Gly)
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NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr)
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rs750756638
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NM_005902.4(SMAD3):c.934G>C (p.Ala312Pro)
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NM_005902.4(SMAD3):c.937A>G (p.Ile313Val)
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rs1595960434
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NM_005902.4(SMAD3):c.943G>A (p.Val315Ile)
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NM_005902.4(SMAD3):c.943G>T (p.Val315Phe)
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rs1468779374
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NM_005902.4(SMAD3):c.955A>G (p.Asn319Asp)
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rs1595960455
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Single allele
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